NIPBL Antibody

中文名稱：

NIPBL兔多克隆抗體
貨號：

CSB-PA750379LA01HU
規格：

￥440
圖片：
Immunohistochemistry of paraffin-embedded human liver tissue using CSB-PA750379LA01HU at dilution of 1:100

Western Blot
Positive WB detected in Recombinant protein
All lanes: NIPBL antibody at 4μg/ml
Secondary
Goat polyclonal to rabbit IgG at 1/50000 dilution
predicted band size: 50 kDa
observed band size: 50 kDa
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品描述：

The product CSB-PA750379LA01HU is a polyclonal antibody against the NIPBL protein. It is raised in the rabbit immunized by a partial recombinant protein mapping within amino acids 2523-2697 of human NIPBL protein. This NIPBL antibody is available as the unconjugated IgG isoform. It only shows reactivity with human NIPBL protein. It has undergone protein G purification and reaches over 95% in purity. Multiple and rigorous validations done in this NIPBL antibody demonstrated that it can recognize NIPBL protein in ELISA, IHC, and WB applications.

The target protein NIPBL plays a critical role in the recruitment of cohesin to chromatin by interacting with other chromatin-associated factors and facilitating the loading of cohesin onto DNA. NIPBL is also involved in the release of cohesin from chromatin during mitosis and meiosis by regulating the activity of separase, a protease that cleaves the cohesin complex. Mutations in the NIPBL gene can cause Cornelia de Lange syndrome, a rare genetic disorder characterized by developmental abnormalities and intellectual disability.
產品名稱：

Rabbit anti-Homo sapiens (Human) NIPBL Polyclonal antibody
Uniprot No.：

Q6KC79
基因名：

NIPBL
別名：

CDLS antibody; Colon tumor susceptibility 2 antibody; Delangin antibody; DKFZp434L1319 antibody; FLJ11203 antibody; FLJ12597 antibody; FLJ13354 antibody; FLJ13648 antibody; FLJ44854 antibody; IDN 3 antibody; IDN 3 protein antibody; IDN 3 protein isoform A antibody; IDN 3 protein isoform B antibody; IDN 3B antibody; IDN3 B antibody; IDN3 protein antibody; IDN3 protein isoform A antibody; IDN3 protein isoform B antibody; IDN3B antibody; Mis 4 antibody; Mis4 antibody; Nipbl antibody; NIPBL_HUMAN antibody; Nipped B homolog (Drosophila) antibody; Nipped B homolog antibody; Nipped B like antibody; Nipped B like protein antibody; Nipped-B-like protein antibody; Scc 2 antibody; SCC 2 homolog antibody; Scc2 antibody; SCC2 homolog antibody; Sister chromatid cohesion protein Mis4 antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Nipped-B-like protein (2523-2697AA)
免疫原種屬：

Homo sapiens (Human)

標記方式：

Non-conjugated

本頁面中的產品，NIPBL Antibody (CSB-PA750379LA01HU)，的標記方式是Non-conjugated。對于NIPBL Antibody，我們還提供其他標記。見下表：

標記方式	貨號	產品名稱	應用
HRP	CSB-PA750379LB01HU	NIPBL Antibody, HRP conjugated	ELISA
FITC	CSB-PA750379LC01HU	NIPBL Antibody, FITC conjugated
Biotin	CSB-PA750379LD01HU	NIPBL Antibody, Biotin conjugated	ELISA

克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
產品提供形式：

Liquid
應用范圍：

ELISA, WB, IHC

推薦稀釋比：

Application	Recommended Dilution
WB	1:500-1:5000
IHC	1:20-1:200

Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
Immunohistochemistry (IHC) Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

功能：

Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin. Plays a role in cohesin loading at sites of DNA damage. Its recruitment to double-strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168-dependent manner whereas its recruitment to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner. Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others.
基因功能參考文獻：
1. Mutations in NIPBL result in the dysregulation of many genes responsible for normal heart development likely resulting in the variety of structural cardiac defects observed in the CdLS population. PMID: 29348408
2. Frameshift Mutation in NIPBL gene is associated with Cornelia de Lange Syndrome. PMID: 29531005
3. In Chinese patients with Cornelia de Lange syndrome, a heterozygous mutation in exon 20 of the NIPBL gene in proband 2, and a heterozygous mutation in intron 38 of the NIPBL gene in proband 3 were found, and RT-PCR revealed a splicing mutation in exon 38, generating both normal transcript and an aberrant alternatively spliced transcript with exon 38 deletion. PMID: 29452578
4. Downregulation of cohesin loading factor NIPBL arrested breast cancer cells in vitro in the G0/G1 phase of the cell cycle and induced apoptosis and autophagy. PMID: 28987049
5. Using fluorescence recovery after photobleaching (FRAP) and single-molecule tracking in human cells, the authors show that Scc2 binds dynamically to chromatin, principally through an association with cohesin. PMID: 28914604
6. Authors have identified a novel distal enhancer regulating both NIPBL and NIPBL-AS1. PMID: 29261648
7. Nipbl seems to have also additional roles, for instance as transcription factor.This chapter summarizes our current knowledge on kollerin function and the recent studies on the genomic localization of Scc2, highlighting and critically discussing controversial data. PMID: 27797076
8. The findings suggest similarities in the behavioral phenotype between those with and without the NIPBL mutation once differences in self help skills are controlled for. PMID: 28425213
9. We conclude that SMC1A variants can result in a phenotype resembling CdLS and a phenotype resembling Rett syndrome. Resemblances between the SMC1A group and the NIPBL group suggest that a disturbed cohesin function contributes to the phenotype, but differences between these groups may also be explained by other underlying mechanisms such as moonlighting of the cohesin genes. PMID: 28548707
10. NIPBL has evolved a sophisticated response to damaged DNA that is influenced by the form of damage, suggesting a highly dynamic role for NIPBL in maintaining genomic stability. PMID: 28167679
11. 37 novel nipped-B-like protein (NIPBL) mutations were identified in Cornelia de Lange syndrome patients, including 34 in leukocytes and 3 in buccal cells only. PMID: 26701315
12. Pathological variant specific of the isoform A of NIPBL was identified in two patients with Cornelia de Lange Syndrome. PMID: 28241484
13. Subsequent quantitative PCR analysis demonstrated a 30% decrease of the total NIPBL mRNA levels associated with the frameshift transcript PMID: 26925417
14. NIPBL gene mutation is associated with Thrombocytopenia in Cornelia de Lange syndrome. PMID: 26437745
15. This study provides insight into the molecular pathology of Cornelia de Lange syndrome by establishing a relationship between NIPBL and HDAC8 mutations and PKR activation. PMID: 26725122
16. NIPBL expression conferred poor prognosis and resistance to chemotherapy in non-small cell lung cancer PMID: 25963978
17. Scc2 normally promotes a gene expression program that supports translational fidelity. . translational dysfunction may contribute to the human disorder Cornelia de Lange syndrome, which is caused by mutations in NIPBL, the human ortholog of SCC2. PMID: 26176819
18. There was an increased frequncy of NIPBL mutations in a cohort of prenatal ultrasound detected phenotypes of Cornelia de Lange syndrome. PMID: 24218399
19. A new Sanger sequencing reveals new hidden mutations in NIPBL gene not detected with conventional approach. PMID: 25196272
20. analysis of the mutation spectrum of NIPBL in in Chinese patients with Cornelia de Lange syndrome PMID: 25447906
21. Nine mutations affecting splice-sites in the NIPBL gene and four new splicing isoforms DeltaE10, DeltaE12, DeltaE33,34, and B' was identified in twelve CdLS patients. PMID: 24918291
22. defects of NIPBL might lead to cohesin-loading defects and thereby alter gene expression and second, NIPBL deficiency might affect genes directly via its role at the respective promoters. PMID: 24550742
23. Results show that NIPBL has a function in modulating chromatin architecture that is not dependent on SMC3/cohesin or CTCF in classical Cornelia de Lange syndrome. PMID: 23760082
24. Letter/Case Report: novel NIPBL mutation giving rise to Cornelia de Lange syndrome and intrauterine fetal death. PMID: 24189319
25. Canonical WNT pathway and CCND1 downregulation was observed in NIPBL-mutated patient-specific fibroblasts. PMID: 24136230
26. In B cells from Cornelia de Lange Syndrome, found strong correlation between heterozygous loss-of-function mutations in cohesin loading protein NIPBL and a shift toward microhomology-based end joining during IG class switch recombination. PMID: 24145515
27. These data suggest that NBPBL is frequently inactived in gastric and colorectal neoplasms with microsatellite instability. PMID: 23912250
28. In the present study, conducted on a group of 64 unrelated Polish Cornelia de Lange syndrome patients, 25 various NIPBL sequence variants, including 22 novel point mutations, were detected. PMID: 23254390
29. Somatic mosaicism for an NIPBL mutation is frequent (10/44; 23%) clinically in reliably diagnosed Cornelia de Lange syndrome individuals. PMID: 23505322
30. NIPBL, SMC1A, and SMC3 mutation-positive patients were equally likely to have congenital heart diseases in Cornelia de lange syndrome. PMID: 22965847
31. The mutational analysis in Chinese patients with Cornelia de Lange syndrome revealed splice-site mutations in NIPBL in 2 out of 4 patients. PMID: 22857006
32. Large deletions/duplications in the NIPBL gene are detected in Cornelia de Lange patients. PMID: 22353942
33. Our findings suggest a potential clinical utility to testing for copy number variations involving NIPBL when clinically diagnosed CdLS cases are mutation-negative by DNA-sequencing studies. PMID: 22241092
34. In patient with Cornelia de Lange syndrome, a large deletion encompassing exons 35 to 47 of the NIPBL gene was identified. PMID: 20727427
35. Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome. PMID: 20824775
36. The identification of 14 additional mutations of the cohesin complex genes NIPBL and SMC1A in a cohort of 30 unrelated patients with Cornelia de Lange syndrome, is reported. PMID: 20358602
37. NIPBL mutation is associated with Cornelia de Lange syndrome. PMID: 20124326
38. identified mutations in one gene, NIPBL, in four sporadic and two familial cases of Cornelia de Lange syndrome PMID: 15146186
39. results show that NIPBL mutations are present in only 35% of Cornelia de Lange syndrome cases, strongly suggesting the genetic heterogeneity of this syndrome PMID: 15591270
40. Mutations in NIPBL, the human homologue of the Drosophila Nipped-B gene, were found to cause De Lange syndrome. PMID: 16236812
41. So far, two genes (NIPBL and SMC1L1) have been identified causing Cornelia de Lange syndrome (CdLS) or CdLS-like phenotypes. PMID: 17106445
42. Large NIPBL deletion in a patient with Cornelia de Lange Syndrome. PMID: 17264868
43. NIPBL mutations in Cornelia de Lange syndrome: truncating, splice-site, missense, in-frame deletion & regulatory; truncating mutations most frequent in patients with high clinical score; most splice-site & all missense mutations in low-medium score group PMID: 17661813
44. This study identified duplications Cornelia de Lange syndrome (CdLS) on chromosomes 5 or X using genome wide array comparative genomic hybridisation (aCGH). The duplicated regions contain either the NIPBL or the SMC1A genes. PMID: 19052029
45. Transcription in severely affected Cornelia de Lange Syndrome probands has identified a unique profile of dysregulated gene expression that correlates with phenotypic severity. PMID: 19468298
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相關疾病：

Cornelia de Lange syndrome 1 (CDLS1)
亞細胞定位：

Nucleus. Chromosome.
蛋白家族：

SCC2/Nipped-B family
組織特異性：

Widely expressed. Highly expressed in heart, skeletal muscle, fetal and adult liver, fetal and adult kidney. Expressed at intermediates level in thymus, placenta, peripheral leukocyte and small intestine. Weakly or not expressed in brain, colon, spleen an
數據庫鏈接：

HGNC: 28862

OMIM: 122470

KEGG: hsa:25836

STRING: 9606.ENSP00000282516

UniGene: Hs.481927

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